| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 25 |
|
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619528 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 63 |
|
Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 50 |
|
Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 30 |
|
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia |
OMIM:618110 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia |
OMIM:618948 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo... |
OMIM:620438 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
OMIM:618433 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morpho... |
ORPHA:280195 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619949 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Joubert Syndrome 16 |
|
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele |
OMIM:614465 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... |
OMIM:609583 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem m... |
ORPHA:1532 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
| Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... |
OMIM:611134 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia |
OMIM:619607 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
| Spermatogenic Failure 2 |
|
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia |
OMIM:108420 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:617127 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... |
ORPHA:370022 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Dandy-Walker malformation, Dilated... |
OMIM:614175 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619111 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... |
OMIM:617622 |
| Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele |
OMIM:611560 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:614815 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... |
OMIM:610688 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Spermatogenic Failure 77 |
|
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia |
OMIM:620103 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Azoospermia, Cardiomyopathy, Impotence, Testicular atrophy, Splenomegaly, Cardiomeg... |
OMIM:235200 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Ce... |
OMIM:614424 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Abnormal brainstem morphology, Dilated f... |
ORPHA:370959 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Coach Syndrome 1 |
|
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Dy... |
OMIM:216360 |
| Joubert Syndrome 2 |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior c... |
OMIM:608091 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Tremor |
ORPHA:220497 |
| Spermatogenic Failure 14 |
|
Male infertility, Round spermatid arrest, Azoospermia |
OMIM:615842 |
| Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abno... |
ORPHA:356961 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia |
ORPHA:48 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Joubert Syndrome 1 |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... |
OMIM:213300 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Tremor |
ORPHA:220493 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... |
ORPHA:85451 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Encephalocele |
ORPHA:2318 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal brainstem morpho... |
ORPHA:163961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, ... |
ORPHA:98755 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Oligozoospermia |
ORPHA:3000 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Tremor, Abnormal midbrain morphology, Dystonia, Opisthotonus, Abnormal pons ... |
ORPHA:79139 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Dilated fourth ven... |
OMIM:619306 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Spermatogenic Failure 13 |
|
Male infertility, Azoospermia |
OMIM:615841 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Neuraminidase Deficiency |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Erectile dysfunction, Decreased libido, Cardiomyopathy, Infertility, Testicular atr... |
ORPHA:465508 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Dandy-Walker malformation, Dystonia, Neural tube defect |
ORPHA:79321 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated ... |
ORPHA:397715 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Occipital meni... |
OMIM:616546 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Cere... |
ORPHA:444072 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Agenesi... |
OMIM:610188 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... |
ORPHA:324410 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morph... |
ORPHA:370997 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... |
ORPHA:261529 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
| Arima Syndrome |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilated fourth ventri... |
OMIM:243910 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum |
ORPHA:79279 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia |
OMIM:619476 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal cerebellum morpho... |
ORPHA:68 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Priapism, Splenomegaly |
OMIM:603903 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Isolated Posterior Meningocele |
|
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Chia... |
ORPHA:268810 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Abnormal brainstem morp... |
ORPHA:8 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia |
OMIM:616300 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Tremor |
ORPHA:2754 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele |
OMIM:277170 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain |
OMIM:616202 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... |
OMIM:602782 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect |
ORPHA:79330 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dan... |
OMIM:249000 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect |
OMIM:614921 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Abnormal brainstem morphology, Cerebellar hypoplasia, Cerebellar atrophy, Intention tremor |
OMIM:301310 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Male infertility |
OMIM:244400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Dandy-Walker malf... |
OMIM:615948 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Wilson Disease |
|
Face of the giant panda sign, Tremor, Limb dystonia, Dystonia, Hand tremor |
OMIM:277900 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... |
ORPHA:581 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Diffuse cerebellar atrophy, Intention tremor |
ORPHA:93256 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:252500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... |
OMIM:300967 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
| Aromatase Deficiency |
|
Male infertility, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:91 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:137675 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly |
OMIM:130650 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI |
ORPHA:434179 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:365 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Hepatosplenomegaly |
OMIM:219700 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:620376 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Limb dystonia, Abnormal brainstem morphology |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Limb dystonia, Abnormal brainstem morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Limb dystonia, Abnormal brainstem morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Limb dystonia, Abnormal brainstem morphology |
ORPHA:93924 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Fu... |
ORPHA:904 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Irregular menstruation |
OMIM:256040 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity... |
OMIM:619991 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect |
ORPHA:3472 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology |
ORPHA:464311 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Chiari type I malformation, Umbilical hernia |
ORPHA:798 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification |
ORPHA:51608 |
